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Barth Syndrome Is Associated with a Cognitive Phenotype

OBJECTIVE: Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome sugges...

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Detalhes bibliográficos
Main Authors: Mazzocco, Michèle M.M., Henry, Anne E., Kelly, Richard I.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2813702/
https://ncbi.nlm.nih.gov/pubmed/17353728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/01.DBP.0000257519.79803.90
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